The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by aggressive osteolysis associated with progressive nephropathy. The early clinical presentation can mimic polyarticular juvenile idiopathic arthritis. Since 2012, MAFB mutations have been discovered in al...
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Wiley
2018-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2018/6783957 |
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| author | Pongsakorn Choochuen Kitiwan Rojneuangnit Thanitchet Khetkham Sookkasem Khositseth |
| author_facet | Pongsakorn Choochuen Kitiwan Rojneuangnit Thanitchet Khetkham Sookkasem Khositseth |
| author_sort | Pongsakorn Choochuen |
| collection | DOAJ |
| description | Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by aggressive osteolysis associated with progressive nephropathy. The early clinical presentation can mimic polyarticular juvenile idiopathic arthritis. Since 2012, MAFB mutations have been discovered in all MCTO patients. Therefore, the early diagnosis can be made based on genetic confirmation. We report the clinical manifestation of mineral bone disease and the molecular genetic study of a Thai female adolescent with MCTO. She presented with end-stage renal disease, bilateral wrist and ankle joint deformities, and subtle facial dysmorphic features. We identified a heterozygous missense MAFB mutation at nucleotide 197 from C to G (NM_005461.4; c.197C>G), predicting the change of amino acid at codon 66 from serine to cysteine (p.Ser66Cys), and the mutation was absent in the parents, indicating a de novo mutation. This report confirms the previous link between MAFB mutation and MCTO. Her unexplained hypercalcemia after a regular dose of calcium and active vitamin D supported an important role of MafB in the negative regulation of RANKL-mediated osteoclast differentiation. Therefore, we would encourage the physicians who take care of MCTO patients to closely monitor serum calcium level and perform a genetic study as a part of the management and investigation. |
| format | Article |
| id | doaj-art-bb24b284f9bf482d8cbc40d7de4b2461 |
| institution | DOAJ |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
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| series | Case Reports in Medicine |
| spelling | doaj-art-bb24b284f9bf482d8cbc40d7de4b24612025-08-20T03:23:27ZengWileyCase Reports in Medicine1687-96271687-96352018-01-01201810.1155/2018/67839576783957The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in AsianPongsakorn Choochuen0Kitiwan Rojneuangnit1Thanitchet Khetkham2Sookkasem Khositseth3Medical Student, Faculty of Medicine, Thammasat University, Bangkok, ThailandDepartment of Pediatrics, Faculty of Medicine, Thammasat University, Bangkok, ThailandDivison of Forensic Medicine, Thammasat University Hospital, Khlong Nueng, ThailandDepartment of Pediatrics, Faculty of Medicine, Thammasat University, Bangkok, ThailandMulticentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by aggressive osteolysis associated with progressive nephropathy. The early clinical presentation can mimic polyarticular juvenile idiopathic arthritis. Since 2012, MAFB mutations have been discovered in all MCTO patients. Therefore, the early diagnosis can be made based on genetic confirmation. We report the clinical manifestation of mineral bone disease and the molecular genetic study of a Thai female adolescent with MCTO. She presented with end-stage renal disease, bilateral wrist and ankle joint deformities, and subtle facial dysmorphic features. We identified a heterozygous missense MAFB mutation at nucleotide 197 from C to G (NM_005461.4; c.197C>G), predicting the change of amino acid at codon 66 from serine to cysteine (p.Ser66Cys), and the mutation was absent in the parents, indicating a de novo mutation. This report confirms the previous link between MAFB mutation and MCTO. Her unexplained hypercalcemia after a regular dose of calcium and active vitamin D supported an important role of MafB in the negative regulation of RANKL-mediated osteoclast differentiation. Therefore, we would encourage the physicians who take care of MCTO patients to closely monitor serum calcium level and perform a genetic study as a part of the management and investigation.http://dx.doi.org/10.1155/2018/6783957 |
| spellingShingle | Pongsakorn Choochuen Kitiwan Rojneuangnit Thanitchet Khetkham Sookkasem Khositseth The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian Case Reports in Medicine |
| title | The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian |
| title_full | The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian |
| title_fullStr | The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian |
| title_full_unstemmed | The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian |
| title_short | The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian |
| title_sort | first report of multicentric carpotarsal osteolysis syndrome caused by mafb mutation in asian |
| url | http://dx.doi.org/10.1155/2018/6783957 |
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